Literature DB >> 35990036

Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.

Katarzyna Zdanowicz1, Miroslawa Uscinowicz1, Magdalena Rakowska2, Katarzyna Wertheim-Tysarowska3, Agnieszka Magdalena Rygiel3, Grzegorz Oracz2, Dariusz Marek Lebensztejn1.   

Abstract

Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 + 2T > C in serine protease inhibitor, Kazal type 1 ( SPINK1 ) and pancreas divisum. Thieme. All rights reserved.

Entities:  

Keywords:  SPINK1; children; pancreas divisum

Year:  2020        PMID： 35990036      PMCID： PMC9385255          DOI： 10.1055/s-0040-1717109

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  22 in total

Review 1.  Pancreas divisum.

Authors:  Matthew J DiMagno; Erik-Jan Wamsteker
Journal:  Curr Gastroenterol Rep       Date:  2011-04

2.  CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Authors:  Jonas Rosendahl; Olfert Landt; Jana Bernadova; Peter Kovacs; Niels Teich; Hans Bödeker; Volker Keim; Claudia Ruffert; Joachim Mössner; Andreas Kage; Michael Stumvoll; David Groneberg; Renate Krüger; Werner Luck; Matthias Treiber; Michael Becker; Heiko Witt
Journal:  Gut       Date:  2012-03-17       Impact factor: 23.059

3.  High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.

Authors:  Yeoun Joo Lee; Kyung Mo Kim; Jin Ho Choi; Beom Hee Lee; Gu-Hwan Kim; Han-Wook Yoo
Journal:  J Pediatr Gastroenterol Nutr       Date:  2011-04       Impact factor: 2.839

4.  Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis.

Authors:  Pramod Kumar Garg; Rajni Khajuria; Madhulika Kabra; Shivaram S Shastri
Journal:  J Clin Gastroenterol       Date:  2009-10       Impact factor: 3.062

5.  CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.

Authors:  Agnieszka Magdalena Rygiel; Małgorzata Wojnicka-Stolarz; Katarzyna Niepokój; Grzegorz Oracz; Jerzy Bal; Katarzyna Wertheim-Tysarowska; Krzysztof Gutkowski
Journal:  Dev Period Med       Date:  2015 Jul-Sep

Review 6.  The Role of Genetics in Pancreatitis.

Authors:  Aws Hasan; Dagmara I Moscoso; Fay Kastrinos
Journal:  Gastrointest Endosc Clin N Am       Date:  2018-10

7.  A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Authors:  Emmanuelle Masson; Jian-Min Chen; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Journal:  PLoS One       Date:  2013-08-08       Impact factor: 3.240

8.  Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East.

Authors:  Muyun Liu; Tian Xia; Di Zhang; Lianghao Hu; Zhuan Liao; Chang Sun; Zhaoshen Li
Journal:  Gastroenterol Res Pract       Date:  2017-02-28       Impact factor: 2.260

9.  PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

Authors:  Sun Mi Cho; Saeam Shin; Kyung A Lee
Journal:  Ann Lab Med       Date:  2016-11       Impact factor: 3.464

10.  Diagnostic and therapeutic recommendations for chronic pancreatitis. Recommendations of the Working Group of the Polish Society of Gastroenterology and the Polish Pancreas Club.

Authors:  Roland Kadaj-Lipka; Michał Lipiński; Krystian Adrych; Marek Durlik; Anita Gąsiorowska; Mirosław Jarosz; Grażyna Jurkowska; Ewa Małecka-Panas; Grzegorz Oracz; Mariusz Rosołowski; Barbara Skrzydło-Radomańska; Renata Talar-Wojnarowska; Grażyna Rydzewska
Journal:  Prz Gastroenterol       Date:  2018-09-17
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